STAT5B (signal transducer and activator of transcription 5B)

Gene

• Entrez ID: 6777
• Gene name: Signal transducer and activator of transcription 5B
• Gene symbol: STAT5B
• Synonyms: GHISID2, STAT5
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908501	C>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs121908502	G>A	Pathogenic	Coding sequence variant, stop gained
rs143171571	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143172354	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs148793995	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs761761205	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1555548678	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555548680	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555549674	T>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023476	hsa-miR-23b-3p	Sequencing	20371350
MIRT036362	hsa-miR-1229-3p	CLASH	23622248
MIRT038811	hsa-miR-93-3p	CLASH	23622248
MIRT042849	hsa-miR-324-3p	CLASH	23622248
MIRT054842	hsa-miR-134-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	24440911
MIRT287194	hsa-miR-19a-3p	HITS-CLIP	23313552
MIRT287195	hsa-miR-19b-3p	HITS-CLIP	23313552
MIRT497811	hsa-miR-335-3p	PAR-CLIP	22291592
MIRT497812	hsa-miR-6734-5p	PAR-CLIP	22291592
MIRT497813	hsa-miR-1226-5p	PAR-CLIP	22291592
MIRT497814	hsa-miR-6834-5p	PAR-CLIP	22291592
MIRT497815	hsa-miR-526b-5p	PAR-CLIP	22291592
MIRT497816	hsa-miR-6738-5p	PAR-CLIP	22291592
MIRT497817	hsa-miR-5194	PAR-CLIP	22291592
MIRT497818	hsa-miR-1914-3p	PAR-CLIP	22291592
MIRT497819	hsa-miR-423-5p	PAR-CLIP	22291592
MIRT497820	hsa-miR-3184-5p	PAR-CLIP	22291592
MIRT497821	hsa-miR-4762-5p	PAR-CLIP	22291592
MIRT635718	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT635718	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT635718	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT635719	hsa-miR-8485	HITS-CLIP	23824327
MIRT635719	hsa-miR-8485	HITS-CLIP	23313552
MIRT635719	hsa-miR-8485	HITS-CLIP	27418678
MIRT648654	hsa-miR-106b-3p	HITS-CLIP	23824327
MIRT732355	hsa-miR-150-5p	Luciferase reporter assay, qRT-PCR, Western blot	27447965
MIRT733331	hsa-miR-28-5p	Luciferase reporter assay	24681953
MIRT733644	hsa-miR-182-3p	Luciferase reporter assay	25231457
MIRT734604	hsa-miR-28-3p	Luciferase reporter assay	24681953

Transcription factors

Transcription factor	Regulation	Reference
ZNF382	Repression	20682794

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001553	Process	Luteinization	IEA
GO:0001779	Process	Natural killer cell differentiation	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8631883
GO:0005515	Function	Protein binding	IPI	9989503, 21106534, 31175292, 32296183
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006952	Process	Defense response	IBA	21873635
GO:0007259	Process	Receptor signaling pathway via JAK-STAT	IBA	21873635
GO:0007565	Process	Female pregnancy	IEA
GO:0007595	Process	Lactation	IEA
GO:0019218	Process	Regulation of steroid metabolic process	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019530	Process	Taurine metabolic process	ISS
GO:0019915	Process	Lipid storage	IEA
GO:0030856	Process	Regulation of epithelial cell differentiation	IEA
GO:0032355	Process	Response to estradiol	IDA	12552091
GO:0032743	Process	Positive regulation of interleukin-2 production	IEA
GO:0032819	Process	Positive regulation of natural killer cell proliferation	IEA
GO:0032825	Process	Positive regulation of natural killer cell differentiation	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IDA	12552091
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0035259	Function	Glucocorticoid receptor binding	IPI	12552091
GO:0035723	Process	Interleukin-15-mediated signaling pathway	TAS
GO:0038110	Process	Interleukin-2-mediated signaling pathway	TAS
GO:0038111	Process	Interleukin-7-mediated signaling pathway	TAS
GO:0038113	Process	Interleukin-9-mediated signaling pathway	TAS
GO:0040014	Process	Regulation of multicellular organism growth	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042104	Process	Positive regulation of activated T cell proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	IBA	21873635
GO:0042448	Process	Progesterone metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	31175292
GO:0043029	Process	T cell homeostasis	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043434	Process	Response to peptide hormone	IBA	21873635
GO:0045579	Process	Positive regulation of B cell differentiation	IEA
GO:0045588	Process	Positive regulation of gamma-delta T cell differentiation	IEA
GO:0045647	Process	Negative regulation of erythrocyte differentiation	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IDA	20702587
GO:0045931	Process	Positive regulation of mitotic cell cycle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IEA
GO:0046543	Process	Development of secondary female sexual characteristics	IEA
GO:0046544	Process	Development of secondary male sexual characteristics	IEA
GO:0046983	Function	Protein dimerization activity	ISS
GO:0048541	Process	Peyer's patch development	IEA
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IBA	21873635
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IDA	12552091
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	TAS
GO:0070670	Process	Response to interleukin-4	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	ISS
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	ISS
GO:0097531	Process	Mast cell migration	IEA

Other IDs

• MIM: 604260
• HGNC: 11367
• e!Ensembl: ENSG00000173757

Protein

• UniProt ID: P51692
• Protein name: Signal transducer and activator of transcription 5B
• Protein function: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation.
• PDB: 6MBW, 6MBZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02865	STAT_int	2 → 124	STAT protein, protein interaction domain	Domain
  PF01017	STAT_alpha	141 → 324	STAT protein, all-alpha domain	Family
  PF02864	STAT_bind	336 → 469	STAT protein, DNA binding domain	Domain
  PF00017	SH2	589 → 670	SH2 domain	Domain

• Sequence:

  MAVWIQAQQLQGEALHQMQALYGQHFPIEVRHYLSQWIESQAWDSVDLDNPQENIKATQL
  LEGLVQELQKKAEHQVGEDGFLLKIKLGHYATQLQNTYDRCPMELVRCIRHILYNEQRLV
  REANNGSSPAGSLADAMSQKHLQINQTFEELRLVTQDTENELKKLQQTQEYFIIQYQESL
  RIQAQFGPLAQLSPQERLSRETALQQKQVSLEAWLQREAQTLQQYRVELAEKHQKTLQLL
  RKQQTIILDDELIQWKRRQQLAGNGGPPEGSLDVLQSWCEKLAEIIWQNRQQIRRAEHLC
  QQLPIPGPVEEMLAEVNATITDIISALVTSTFIIEKQPPQVLKTQTKFAATVRLLVGGKL
  NVHMNPPQVKATIISEQQAKSLLKNENTRNDYSGEILNNCCVMEYHQATGTLSAHFRNMS
  LKRIKRSDRRGAESVTEEKFTILFESQFSVGGNELVFQVKTLSLPVVVIVHGSQDNNATA
  TVLWDNAFAEPGRVPFAVPDKVLWPQLCEALNMKFKAEVQSNRGLTKENLVFLAQKLFNN
  SSSHLEDYSGLSVSWSQFNRENLPGRNYTFWQWFDGVMEVLKKHLKPHWNDGAILGFVNK
  QQAHDLLINKPDGTFLLRFSDSEIGGITIAWKFDSQERMFWNLMPFTTRDFSIRSLADRL
  GDLNYLIYVFPDRPKDEVYSKYYTPVPCESATAKAVDGYVKPQIKQVVPEFVNASADAGG
  GSATYMDQAPSPAVCPQAHYNMYPQNPDSVLDTDGDFDLEDTMDVARRVEELLGRPMDSQ
  WIPHAQS

• Sequence length: 787